Allgrove综合征临床特征及遗传学研究进展

Progress in clinical characteristics and genetics of Allgrove syndrome

Allgrove综合征是一种罕见的常染色体隐性遗传疾病,以无泪症、贲门失弛缓、原发性肾上腺皮质功能减退、神经系统功能障碍四联症为特征性表现。其致病基因为AAAS基因,该基因编码的ALADIN蛋白分布于肾上腺、胃肠道及大脑等全身各器官组织。AAAS基因突变导致ALADIN蛋白功能障碍为其根本原因。Allgrove综合征患者临床特征不尽相同,基因突变类型各异,并且无特定的基因型-表型相关性。本研究综述Allgrove综合征的临床表现及遗传学研究,助临床医生尽早识别该疾病并给予恰当干预。

The Allgrove syndrome(AS) is an autosomal recessive congenital disease, characterized by a tetrad of alacrima, achalasia, ACTH resistant adrenal insufficiency and neurological dysfunction. The mutation of AAAS gene was identified as being responsible for AS. The ALADIN protein encoded by the AAAS gene was distributed in the adrenal gland, gastrointestinal tract and brain. AAAS gene mutation leading to ALADIN protein dysfunction was found to be the root cause of the disease. Patients with AS had different clinical characteristics, different types of gene mutations and no specific genotype phenotype correlation. The clinical manifestations and genetic studies of AS were reviewed in order to help clinicians identify the disease as early as possible and give appropriate interventions.